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rs727504394

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs727504394(-;-)
Make rs727504394(-;TG)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154420668
GeneTAZ
is asnp
is mentioned by
dbSNPrs727504394
dbSNP (classic)rs727504394
ClinGenrs727504394
ebirs727504394
HLIrs727504394
Exacrs727504394
Gnomadrs727504394
Varsomers727504394
LitVarrs727504394
Maprs727504394
PheGenIrs727504394
Biobankrs727504394
1000 genomesrs727504394
hgdprs727504394
ensemblrs727504394
geneviewrs727504394
scholarrs727504394
googlers727504394
pharmgkbrs727504394
gwascentralrs727504394
openSNPrs727504394
23andMers727504394
SNPshotrs727504394
SNPdbers727504394
MSV3drs727504394
GWAS Ctlgrs727504394
Max Magnitude0
ClinVar
Risk rs727504394(-;-)
Alt rs727504394(-;-)
Reference Rs727504394(TG;TG)
Significance Pathogenic
Disease 3-Methylglutaconic aciduria type 2
Variation info
Gene TAZ
CLNDBN 3-Methylglutaconic aciduria type 2
Reversed 0
HGVS NC_000023.10:g.153649007_153649008delTG
CLNSRC
CLNACC RCV000154564.1,